Alternative titles and symbols : Mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type; Dyschondrosteosis, homozygous;
Description : Langer mesomelic dysplasia (LMD) is characterized by severe limb aplasia or severe
hypoplasia of the ulna and fibula, and a thickened and curved radius and tibia. These
changes can result in displacement deformities of the hands and feet. Hypoplasia of
the mandible is also observed (Langer, 1967). See also Leri-Weill dyschondrosteosis
(127300), a less severe phenotype that results from heterozygous defect in the SHOX
or SHOXY genes.;
Inheritance : Pseudoautosomal recessive;
Molecular basis : Caused by mutation in the short stature homeo box gene (SHOX, 312865.0003);